Table 1 Patients with DMD/BMD harboring missense mutations
From: Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Patient | Phetnotype | Dystrophin immunostaining | Exon | DNA change | Protein (predicted) | Frequency | PolyPhen2 prediction | |||
|---|---|---|---|---|---|---|---|---|---|---|
HGVD | ESP6500 | ExAC | ||||||||
5 | BMD | faint&patchy | 3 | c.152 T > G | p.Leu51Arg | no | no | no | 0.999 | probably |
19 | BMD | faint&patchy | 6 | c.434G > C | p.Arg145Pro | no | no | no | 0.998 | probably |
22*2 | BMD | not done | 6 | c.481A > C | p.Thr161Pro | no | no | no | 0.628 | possibly |
23*2 | BMD | faint&patchy | 6 | c.481A > C | p.Thr161Pro | no | no | no | 0.628 | possibly |
112 | DMD | negative | 22 | c.2949G > T | p.Gln9832His | no | no | no | 0.991 | probably |
317 | BMD | faint&patchy | 68 | c.9896A > G | p.His3299Arg | no | no | no | 0.999 | probably |
320 | DMD | faint&patchy | 68 | c.9937 T > C | p.Cys3313Arg | no | no | no | 0.999 | probably |
325 | DMD | negative | 69 | c.10011C > G | p.Cys3337Trp | no | no | no | 1 | probably |